Rare form of autosomal dominant familial Cornelia de Lange syndrome due to a novel duplication in SMC3

por Infante, Elena, Alkorta‐Aranburu, Gorka, El‐Gharbawy, Areeg
Publicado 2017

Familial primary cutaneous amyloidosis: Caspase activation may be involved in amyloid formation

por Antoñanzas, Javier, Pelacho‐Samper, Beatriz, Alkorta‐Aranburu, Gorka, Echeveste, Jose I., Alonso, Agustín España
Publicado 2022

The Genetic Architecture of Adaptations to High Altitude in Ethiopia

por Alkorta-Aranburu, Gorka, Beall, Cynthia M., Witonsky, David B., Gebremedhin, Amha, Pritchard, Jonathan K., Di Rienzo, Anna
Publicado 2012

PRIMAL: Fast and Accurate Pedigree-based Imputation from Sequence Data in a Founder Population

por Livne, Oren E., Han, Lide, Alkorta-Aranburu, Gorka, Wentworth-Sheilds, William, Abney, Mark, Ober, Carole, Nicolae, Dan L.
Publicado 2015

Adaptations to Climate-Mediated Selective Pressures in Humans

por Hancock, Angela M., Witonsky, David B., Alkorta-Aranburu, Gorka, Beall, Cynthia M., Gebremedhin, Amha, Sukernik, Rem, Utermann, Gerd, Pritchard, Jonathan K., Coop, Graham, Di Rienzo, Anna
Publicado 2011

The Dynamic Use of EGFR Mutation Analysis in Cell-Free DNA as a Follow-Up Biomarker during Different Treatment Lines in Non-Small-Cell Lung Cancer Patients

por Macías, Mónica, Alegre, Estibaliz, Alkorta-Aranburu, Gorka, Patiño-García, Ana, Mateos, Beatriz, Andueza, Maria P., Gúrpide, Alfonso, Lopez-Picazo, Jose M., Gil-Bazo, Ignacio, Perez-Gracia, Jose L., González, Álvaro
Publicado 2019

Machine Learning-Based Approach Highlights the Use of a Genomic Variant Profile for Precision Medicine in Ovarian Failure

por Henarejos-Castillo, Ismael, Aleman, Alejandro, Martinez-Montoro, Begoña, Gracia-Aznárez, Francisco Javier, Sebastian-Leon, Patricia, Romeu, Monica, Remohi, Jose, Patiño-Garcia, Ana, Royo, Pedro, Alkorta-Aranburu, Gorka, Diaz-Gimeno, Patricia
Publicado 2021

Does arterial hypertension influence the onset of Huntington's disease?

por Valcárcel-Ocete, Leire, Fullaondo, Asier, Alkorta-Aranburu, Gorka, García-Barcina, María, Roos, Raymund A. C., Hjermind, Lena E., Saft, Carsten, Frontali, Marina, Reilmann, Ralf, Rickards, Hugh, Zubiaga, Ana M., Aguirre, Ana
Publicado 2018

Exploring Genetic Factors Involved in Huntington Disease Age of Onset: E2F2 as a New Potential Modifier Gene

por Valcárcel-Ocete, Leire, Alkorta-Aranburu, Gorka, Iriondo, Mikel, Fullaondo, Asier, García-Barcina, María, Fernández-García, José Manuel, Lezcano-García, Elena, Losada-Domingo, José María, Ruiz-Ojeda, Javier, Álvarez de Arcaya, Amaia, Pérez-Ramos, José María, Roos, Raymund A. C., Nielsen, Jørgen E., Saft, Carsten, Zubiaga, Ana M., Aguirre, Ana
Publicado 2015

Genome-wide Meta-analysis on the Sense of Smell Among US Older Adults

por Dong, Jing, Yang, Jingyun, Tranah, Greg, Franceschini, Nora, Parimi, Neeta, Alkorta-Aranburu, Gorka, Xu, Zongli, Alonso, Alvaro, Cummings, Steven R., Fornage, Myriam, Huang, Xuemei, Kritchevsky, Stephen, Liu, Yongmei, London, Stephanie, Niu, Liang, Wilson, Robert S., De Jager, Philip L., Yu, Lei, Singleton, Andrew B., Harris, Tamara, Mosley, Thomas H., Pinto, Jayant M., Bennett, David A., Chen, Honglei
Publicado 2015

Laboratory Cross-Comparison and Ring Test Trial for Tumor BRCA Testing in a Multicenter Epithelial Ovarian Cancer Series: The BORNEO GEICO 60-0 Study

por Garcia-Casado, Zaida, Oaknin, Ana, Mendiola, Marta, Alkorta-Aranburu, Gorka, Antunez-Lopez, Jose Ramon, Moreno-Bueno, Gema, Palacios, Jose, Yubero, Alfonso, Marquez, Raul, Gallego, Alejandro, Sanchez-Heras, Ana Beatriz, Lopez-Guerrero, Jose Antonio, Perez-Segura, Cristina, Barretina-Ginesta, Pilar, Alarcon, Jesus, Gaba, Lydia, Marquez, Antonia, Matito, Judit, Cueva, Juan, Palacio, Isabel, Iglesias, Maria, Arcusa, Angels, Sanchez-Lorenzo, Luisa, Guerra-Alia, Eva, Romero, Ignacio, Vivancos, Ana
Publicado 2022

Next-generation sequencing of bile cell-free DNA for the early detection of patients with malignant biliary strictures

por Arechederra, Maria, Rullán, María, Amat, Irene, Oyon, Daniel, Zabalza, Lucia, Elizalde, Maria, Latasa, M Ujue, Mercado, Maria R, Ruiz-Clavijo, David, Saldaña, Cristina, Fernández-Urién, Ignacio, Carrascosa, Juan, Jusué, Vanesa, Guerrero-Setas, David, Zazpe, Cruz, González-Borja, Iranzu, Sangro, Bruno, Herranz, Jose M, Purroy, Ana, Gil, Isabel, Nelson, Leonard J, Vila, Juan J, Krawczyk, Marcin, Zieniewicz, Krzysztof, Patkowski, Waldemar, Milkiewicz, Piotr, Cubero, Francisco Javier, Alkorta-Aranburu, Gorka, G Fernandez-Barrena, Maite, Urman, Jesus M, Berasain, Carmen, Avila, Matias A
Publicado 2022

NGS-Based Molecular Karyotyping of Multiple Myeloma: Results from the GEM12 Clinical Trial

por Rosa-Rosa, Juan Manuel, Cuenca, Isabel, Medina, Alejandro, Vázquez, Iria, Sánchez-delaCruz, Andrea, Buenache, Natalia, Sánchez, Ricardo, Jiménez, Cristina, Rosiñol, Laura, Gutiérrez, Norma C., Ruiz-Heredia, Yanira, Barrio, Santiago, Oriol, Albert, Martin-Ramos, Maria-Luisa, Blanchard, María-Jesús, Ayala, Rosa, Ríos-Tamayo, Rafael, Sureda, Anna, Hernández, Miguel-Teodoro, de la Rubia, Javier, Alkorta-Aranburu, Gorka, Agirre, Xabier, Bladé, Joan, Mateos, María-Victoria, Lahuerta, Juan-José, San-Miguel, Jesús F., Calasanz, María-José, Garcia-Sanz, Ramón, Martínez-Lopez, Joaquín
Publicado 2022

Reprogramming human T cell function and specificity with non-viral genome targeting

por Roth, Theodore L., Puig-Saus, Cristina, Yu, Ruby, Shifrut, Eric, Carnevale, Julia, Li, P. Jonathan, Hiatt, Joseph, Saco, Justin, Krystofinski, Paige, Li, Han, Tobin, Victoria, Nguyen, David N., Lee, Michael R., Putnam, Amy L., Ferris, Andrea L., Chen, Jeff W., Schickel, Jean-Nicolas, Pellerin, Laurence, Carmody, David, Alkorta-Aranburu, Gorka, Gaudio, Daniela Del, Matsumoto, Hiroyuki, Morell, Montse, Mao, Ying, Cho, Min, Quadros, Rolen M., Gurumurthy, Channabasavaiah B., Smith, Baz, Haugwitz, Michael, Hughes, Stephen H., Weissman, Jonathan S., Schumann, Kathrin, Esensten, Jonathan H., May, Andrew P., Ashworth, Alan, Kupfer, Gary M., Greeley, Siri Atma W., Bacchetta, Rosa, Meffre, Eric, Roncarolo, Maria Grazia, Romberg, Neil, Herold, Kevan C., Ribas, Antoni, Leonetti, Manuel D., Marson, Alexander
Publicado 2018

Reconstructing Native American Population History

por Reich, David, Patterson, Nick, Campbell, Desmond, Tandon, Arti, Mazieres, Stéphane, Ray, Nicolas, Parra, Maria V., Rojas, Winston, Duque, Constanza, Mesa, Natalia, García, Luis F., Triana, Omar, Blair, Silvia, Maestre, Amanda, Dib, Juan C., Bravi, Claudio M., Bailliet, Graciela, Corach, Daniel, Hünemeier, Tábita, Bortolini, Maria-Cátira, Salzano, Francisco M., Petzl-Erler, María Luiza, Acuña-Alonzo, Victor, Aguilar-Salinas, Carlos, Canizales-Quinteros, Samuel, Tusié-Luna, Teresa, Riba, Laura, Rodríguez-Cruz, Maricela, Lopez-Alarcón, Mardia, Coral-Vazquez, Ramón, Canto-Cetina, Thelma, Silva-Zolezzi, Irma, Fernandez-Lopez, Juan Carlos, Contreras, Alejandra V., Jimenez-Sanchez, Gerardo, Gómez-Vázquez, María José, Molina, Julio, Carracedo, Ángel, Salas, Antonio, Gallo, Carla, Poletti, Giovanni, Witonsky, David B., Alkorta-Aranburu, Gorka, Sukernik, Rem I., Osipova, Ludmila, Fedorova, Sardana, Vasquez, René, Villena, Mercedes, Moreau, Claudia, Barrantes, Ramiro, Pauls, David, Excoffier, Laurent, Bedoya, Gabriel, Rothhammer, Francisco, Dugoujon, Jean Michel, Larrouy, Georges, Klitz, William, Labuda, Damian, Kidd, Judith, Kidd, Kenneth, Rienzo, Anna Di, Freimer, Nelson B., Price, Alkes L., Ruiz-Linares, Andrés
Publicado 2012